836 PEDIATRICS Vol. 75 No. 5 May 1985
Glossoptosis-Apnea Syndrome in Infancy
F. Cozzi, MD, and A. Pierro, MD
From the Section of Pediatric Surgery, Department of Pediatrics, University ofRome, Rome
ABSTRACT. The clinical and physiologic features of 28infants with Pierre Robin syndrome and those of 20infants with various types of nasal obstruction were re-viewed to determine whether different causes of upperairway obstructure may lead to a common syndrome. Thepatients had no significant differences in distribution ofmain clinical manifestations. Their features included cy-anosis with respiratory distress, apneic spells, oropharyn-
geal dysphagia, vomiting, failure to thrive, cor pulmonale,brain damage, and sudden death during sleep. The corn-mon physiologic manifestation appeared to be an oropha-
ryngeal obstruction caused by glossoptosis, which oc-curred mainly during wakefulness. Upper airway obstruc-tion led to hypoxemia, which, in many instances, was notassociated with hypercapnia and was not relieved byoxygen administration. It is concluded that regardless ofa specific cause, any airway obstruction that results in adecreased inspiratory pressure overcoming the airwaymaintaining genioglossus action causes a glossoptosis-apnea syndrome. Pediatrics 1985;75:836-843; Pierre Ro-
bin syndrome, choanal atresia, upper airway obstruction,sleep apnea syndrome, sudden infant death syndrome.
In 1923, Robin introduced the term “glossopto-
sis” to describe the tongue falling back and causingpharyngeal obstruction.’ In his view, glossoptosis
was responsible for the clinical manifestations con-
stituting the “glossoptotic syndrome” with two dif-ferent presentations according to the age of thepatient. In children aged 6 years or older, the “ac-
quired glossoptosis,” most often associated withenlarged adenoids, was responsible for difficultiesin breathing leading to physical and mental retar-
dation. In infancy, the “congenital glossoptosis”
was more dangerous because it often led to “ca-chexia and death” due to “respiratory and nutri-tional insufficiency.”
Robin believed that congenital and acquired glos-
Received for publication Jan 6, 1984; accepted May 15, 1984.Reprint requests to (F.C.) Istituto di Clinica Pediatrica, VialeRegina Elena, 324, 00161 Roma, Italy.PEDIATRICS (ISSN 0031 4005). Copyright © 1985 by the
American Academy of Pediatrics.
soptosis was always a simple mechanical conse-quence of a hypotrophy of the mandible. However,
glossoptotic obstruction of the pharynx, associated
with apneic episodes during feeding or sleeping, hasalso been observed in infants with choanal atresia
or stenosis.2’3 The present report describes a seriesof infants with Pierre Robin syndrome or nasalobstruction. The aim of the study was to determine
whether glossoptosis occurring in infancy and due
to different types of upper airway obstruction canlead to a common syndrome and to determine the
relationship of glossoptotic syndrome to sleep-ap-nea syndromes, which seem to have the same phys-iologic manifestations.4’#{176}
PATIENTS AND METHODS
We reviewed the case notes for all infants with
either Pierre Robin syndrome or nasal obstructionwho were seen at the Istituto di Clinica Pediatricabetween January 1970 and December 1981. Thirty-
eight infants were admitted to the surgical ward
and ten to the intensive care unit. The minimumdiagnostic criterion for suspicion of Pierre Robin
syndrome was a receding chin. The minimum di-
agnostic criterion for suspicion of nasal obstructionwas noisy nasal respiration associated with respi-ratory distress and/or sucking difficulties.
Patient evaluation included a complete history
and physical examination, ECG, and radiographsof the upper airways. In 29 patients (25 with reced-ing chin and four with respiratory distress due to
rhinitis), radiologic cephalometric assessment” was
made by one staff radiologist using ordinary lateralfilm of the skull. Rhinography was performed in
patients with suspicion of choana! atresia or ste-
nosis. Endoscopic examination of nose and throatwas performed in all patients, and laryngoscopywas performed in those infants with stridor. Eva!-
uation of patients with respiratory distress or fail-ure to thrive included one or more determinationsof arterial blood gases and/or chest roentgenogram.
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
Fig 1. Posterior displacement of tongue without hypo-plasia of either mandible or maxilla.
TABLE 1. Distribution of Main Clinical Features of 20 Infants with Different Types of Nasal Obstruction
Choanal Atresia/Stenosis
17
Rhinitis
18 19 20
Bilateral Unilateral
1 2 3 4 5 6 7 8 9 10* 11 12 13 14* 15* 16*
Respiratorydistress + + + + + + + + + + + + + + + + + + +
Cyanosis + + + + + + + + + + + + + + + + + +
Apneicspells + + + + + + + + + + + + + + + +
Glossoptosis + + + + + + + + + + + + + + +
Opisthotonus + + + + +Chest deformity + + + + +
Stridor + + + +
Hyperphonesis + +Wheezing + +
Feedingdifficulties + + + + + + + + + + + + + + +
Vomiting + + + + + + + +
Failure to thrive + + + + + + + +
Abdominal distention + +
Brain damage + + + +
Cor pulmonale + +
Sudden death +
* Choanal stenosis.
ARTICLES 837
EEG was used to study patients with suspicion of
cerebra! damage.
The diagnosis of apneic spells, while infants wereawake and asleep, was based on clinical observation
of paradoxical inward movements of the anterior
chest wall with little or no air entry.’2 The diagnosis
of pharyngea! obstruction due to glossoptosis was
based on clinical examination of the oral cavity.2These observations were made by the parents and/
or hospital personnel; in addition, the majority of
these glossoptotic-apneic spells were clinically doc-
umented (F.C.).Twenty-eight infants (17 male and 11 female)
were referred for further management of symptoms
suggestive of Pierre Robin syndrome. In five in-fants, micrognathia was an isolated defect; in 16
infants, it was associated with cleft palate; and in
six infants, it was associated with malformations offirst and second arch derivatives. In one of the
infants with receding chin, cleft palate, and glos-
soptosis, the roentgenogram of the skull did not
show hypoplasia of the mandible (Fig 1).
Twenty infants (13 female and seven male) werereferred for symptoms suggestive of nasal obstruc-
tion (Table 1). The diagnosis of anatomic nasalobstruction was made if we were unable to pass a
No. 8 French catheter through the nose into the
pharynx. Complete or incomplete obstruction at
the level of the posterior edge of the hard palate
was demonstrated on lateral skull films of the in-
fant in a supine position after nasal injection of
inspissated barium. According to these criteria, in-
fants 1 to 10 had bilateral choanal obstruction;infants 1 1 to 16 had unilateral choanal obstruction.
Bilateral choanal obstruction was complete in in-fants 1 to 9 and incomplete in infant 10; unilateral
choana! obstruction was complete in infants 1 1 to13 and incomplete in infants 14 to 16. In addition,
infants 17 to 20, who were referred for nasal ob-struction associated with apneic blue spells, had no
anatomic obstruction at the passage of the nasa!catheter and they showed only a swelling of the
mucosal lining at rhinoscopy.
In the entire series, 31 infants were referred
during the first two weeks of life; eight infants with
micrognathia were referred between ages 1 and 8months; one infant with rhinitis and four infants
with unilateral choanal obstruction were referred
between ages 1 and 2 months; and four infants withbilateral choanal obstruction were referred betweenages 4 and 18 months. Failure to thrive was consid-
ered to result from airway obstruction when aninfant who had failed to gain weight for a period
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
838 GLOSSOPTOSIS-APNEA SYNDROME
longer than four weeks started to gain weight after
surgical or spontaneous relief of the obstruction.Cor pulmonale was diagnosed in accordance withthe criteria adopted in a recent study of 22 infants
and children with obstructive sleep-apnea.’3Roentgenograms of the chest were performed in
40 patients and were assessed independently by one
staff radiologist. Arterial Po2 and PC02 were mea-sured in blood samples obtained by radial artery
puncture in 20 infants and by umbilical catheteri-zation in five infants. Arterial Po2 and Pco2 weremeasured at 37#{176}Cwith a Radiometer oxygen e!ec-
trode type 5046 and CO2 electrode type E 5036,respectively. The pH was measured with the Astrupmicro-pH-electrode, model PHM-71MK2. We cal-
culated the alveolar-arterial oxygen difference (A -aO2) using a modified alveolar air equation with anassumed R of .8: alveolar Po2 = inspired Po2 -(arterial PC02)/R.
Hypoxemia was diagnosed when arterial Po2 wasless than 60 mm Hg, and hypercapnia when arterial
Pco2 was greater than 45 mm Hg. The differencesin distribution of clinical and radio!ogic featureswere tested by means of x2 test.
RESULTS
Clinical Findings
The infants with different types of nasal obstruc-tion had similar clinical features without corre!a-tion between the degree of the obstruction and the
severity of symptomato!ogy (Table 1). Their symp-
toms and signs were not different from those ofinfants with Pierre Robin syndrome (Table 2).
Twenty-two infants with micrognathia and 17
with nasa! obstruction had cyanosis and dyspnea
at rest with inspiratory retractions. A 2-month-old
infant (infant 11), and one 18-month-old infant(infant 10) had respiratory distress without cy-
anosis and only during sleep.Twenty infants with micrognathia and 16 with
nasal obstruction experienced episodes of obstruc-
tive apneas. It was nearly always observed thatthese recurrent blue spells were accompanied byglossoptosis, indrawing of lips and cheeks, andbackward displacement of the mandible.
Apneic episodes occurred more often while theinfants were sleeping in the supine position or
during feeding or crying (Fig 2). Apnea occurredduring wakefulness in 21 of the 24 patients withapneic spells who had been referred during the first
two weeks of life; but apnea during wakefulnessoccurred in only five of 12 infants with apneic spellswho had been referred after the first month of life
(.05 > P > .01). Apnea during sleep was recordedin four infants with micrognathia, two with bilat-
era! choanal obstruction, two with unilateral
choanal obstruction, and two with rhinitis. The 18-month-old female infant with bilateral choanal ste-nosis could not go to sleep without sucking her
thumb. She was able to breathe through the mouth
around the thumb without awakening, but as thethumb was removed the child showed difficult
breathing with episodes of obstructive apnea, fol-!owed by agitated arousal. Prone position and the
use of oropharyngea! or nasopharyngeal cannu!ae
prevented episodes of complete airway obstruction.Most of the infants reestablished a patent airway
by crying and moving the tongue forward. Vigorous
stimulation or resuscitation was sometimes re-quired to terminate blue spells. Some mothers hadlearned to pull the tongue down with their fingers.
Six infants with micrognathia and five with nasa!obstruction had occasional opisthotonus. Six in-
fants with micrognathia, two with unilateral
choanal obstruction, and two with rhinitis had stri-
dor, which later disappeared spontaneously. In twoinfants with bilateral choanal atresia/stenosis and
in nine infants with micrognathia, the chest was
hyperresonant. Of the whole series, five infants hadwheezing and 1 1 infants had a deformity of the
sternum and/or Harrison’s groove. The chest de-
formities improved or disappeared after relief of
obstruction.
Twenty-four infants with receding chin and 15
with nasal obstruction had sucking and swallowing
difficulties; this resulted in an unusually long feed-
ing time which was associated with nasal regurgi-
tation, and/or laryngeal penetration, and/or ab-
dominal distention. Three infants with recedingchin and one infant with unilateral choana! stenosis
TABLE 2. Distribution of Main Clinical Features in 20Infants with Nasal Obstruction and 28 Infants withPierre Robin Syndrome
NasalObstruction
No.(%)
Pierre RobinSyndrome
No.(%)
Respiratory distressCyanosisApneic spellsGlossoptosisOpisthotonusChest deformityStridorHyperphonesis
Wheezing
19 (95.0)17 (85.0)16 (80.0)15 (75.0)
5 (25.0)5 (25.0)4 (20.0)2 (10.0)
2 (10.0)
22 (78.6)22 (78.6)20 (71.4)
24 (85.7)6 (21.4)6 (21.4)6 (21.4)9 (32.1)
3 (10.7)
Feeding difficultiesVomitingFailure to thriveAbdominal distention
15 (75.0)8 (40.0)8 (40.0)2 (10.0)
24 (85.7)17 (60.7)20 (71.4)
7 (25.0)
Brain damageCor pulmonaleSudden death
4 (20.0)2 (10.0)1 (5.0)
4 (14.2)3 (10.7)6 (21.4)
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
2. Clossoptosis-apnea i� infant �,. �h congenitalbackward and seals palate (right).
tongue is sucked
ARTICLES 839
(infant 16) had only feeding problems. This group
of infants without respiratory problems included
the infant with glossoptosis without underdevelop-
ment of the mandible, as well as one infant with a
severe degree of micrognathia. Vomiting occurred
in 25 of 39 infants of the whole series with feeding
difficulties. Nineteen infants with micrognathia,
one with g!ossoptosis without micrognathia, five
with bilateral choana! obstruction, one with unilat-
era! choana! obstruction, and two with rhinitis
failed to gain weight. Failure to thrive was alwaysfound in infants with persistent airway obstruction.
Surgical relief of choanal obstruction was soon fo!-
lowed by weight gain.
Two newborn infants with bilateral choana! atre-sia were moribund on admission and developed
signs of cerebral damage and eventually died. One
of these (infant 5) had a prolapsed cord, fetal dis-
tress during delivery, and neonatal asphyxia. In the
other infant (infant 7), the brain injury was second-
ary to blue spells starting ten minutes after a nor-
ma! delivery. Two other infants (infants 17 and 19),
born after normal gestation and delivery, were ad-
mitted during the first few hours of life because of
abundant yellow secretion from the nose associated
with respiratory distress and blue spells. They sub-
sequently developed brain damage, which was
judged to be secondary to the airway obstruction.
Two neonates with micrognathia who were bornafter norma! gestation and delivery had apneic blue
spells soon after birth and subsequently developed
signs of physical and mental retardation, probably
due to asphyxic brain damage. Two other micro-
gnathic infants had brain damage; we were unable
to determine with certainty whether the cerebral
lesion occurred in utero.
Three patients with micrognathia and two with
rhinitis had cor pu!monale, which subsequently re-solved. Five infants with micrognathia and one with
unilateral choana! stenosis were found dead in their
cribs; autopsy revealed no plausible cause of death.
In addition, the 5-month-old infant with g!osso-
ptosis without micrognathia was found dead in hercrib at home not long after she had had an upper
respiratory tract infection; autopsy was refused. In
the present series, four additional infants with mi-crognathia died of respiratory failure.
Chest Film Findings
Both infants with micrognathia and those with
nasa! obstruction showed a discrepancy between
severity of respiratory distress and radiologic find-ings. Chest film changes were similar in infants
with different causes of upper airway obstruction
(Table 3). All infants with rhinitis, ten infants with
choanal obstruction (eight with bilateral choanal
obstruction and two with unilateral choana! ob-
struction), and 17 infants with micrognathia had
pulmonary congestion. Three infants with rhinitis,
six infants with choana! obstruction, and 12 infants
with micrognathia had hyperinflated lungs and/or
peribronchial thickening; these changes were more
common in those infants with long-standing airway
obstruction. Segmental or subsegmental area of
opacity rapidly cleared in subsequent films. In ten
infants, gaseous bowel distention was evident on
roentgenograms.
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
R=O.8
0 00
d:J �
0
50
30
0
0 congenital micrognathia. nasal obstruction
0 0
.
.0
00
�,,000i 0
0 � � 00 � a
. . .
10
PaO, mmHg
Pa 0, 110mm Hg
90
70
50
30
10
i::i congenital micrognathia
� nasal obstruction
ii 11
21 22-39 40-50 51-100
Fi 0, %
840 GLOSSOPTOSIS-APNEA SYNDROME
TABLE 3. Distribution of Chest Film Change22 Infants with Congenital Micrognathia
s in 18 Infants with Na sal Obstruction and
Nasal Obstruction Micrognathia
No. (%) No. (%)
Increased vascularityHyperinflated lungsAerophagiaSmall areas of collapse/consolidationPeribronchial thickening
14 (77.7)9 (50.0)7 (38.8)
6 (33.3)5 (27.7)
17 (77.2)
12 (54.5)
3 (13.6)
13 (59.1)
10 (45.4)
Pa CO,mmHg
Fig 3. Values of one or more determinations of arterial oxygen (PaO,) and carbon dioxide(Paco,) tensions. Hypoxemia is not always associated with hypercapnia in patients withdifferent causes of airway obstruction (congenital micrognathia v nasal obstruction).
Fig 4. Breathing at higher pressure of inspired oxygen(Fi02) produces no definite differences of arterial oxygentension (Pao2) in infants with different causes of airwayobstruction (congenital micrognathia v nasal obstruc-tion). Values are means ± SD.
Blood Gases
Monitoring of arterial blood gases during more
severe phases of respiratory distress (Fig 3) showedhypoxemia and hypercapnia associated with respi-ratory acidosis at one or more determinations infive of the 14 infants with micrognathia (35%), andin three (two with rhinitis and one with bilateral
choanal obstruction) of 1 1 infants with nasal ob-struction (27%). During phases of moderate respi-
ratory distress, five of the 14 infants with micro-
gnathia (35%), and six (four with bilateral choanal
obstruction and two with unilateral choanal ob-
struction) of 11 infants with nasa! obstruction(54%) showed hypoxemia with normocapnia or hy-
pocapnia at one or more determinations.
Increasing oxygen concentration in the inspired
air did not modify arterial Po2 (Fig 4), but resultedin a considerable increase of A-ao2 (a!veo!ar-arte-na! oxygen difference) (Fig 5) in both infants with
congenital micrognathia and infants with nasal ob-struction.
DISCUSSION
Pierre Robin Syndrome
In the present series, infants with micrognathia
had feeding and respiratory problems not muchdifferent from those first described by Robin.’ Sud-den crib death,’4”5 cor pulmonale,’6’8 and sleep-related apnea’2”3 have more recently been described
as possible clinical features of the syndrome. Ro-
bin’s concept of g!ossoptotic pharyngeal obstruc-
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
c:� congenital micrognathia0 nasal obstruction
51-100
ARTICLES 841
A-a 0,mm Hg
Fi 0, %
Fig 5. Greater pressure of inspired oxygen (FiO,) results
in greater alveolar-arterial oxygen differences (A-ao,) ininfants with different causes of airway obstruction (con-
genital micrognathia v nasal obstruction). Values aremeans ± SD.
tion as a simple mechanical consequence of the
underdevelopment of the mandible has changedwith better knowledge of the mechanism involvedin maintaining the patency of the pharyngea! air-
way.During normal breathing, the intrathoracic in-
spiratory depression does not result in a collapse of
muscu!omembranous pharyngeal walls because a
neuromuscular mechanism acts, prior to inspira-
tion, to stiffen the floppy structures of the phar-
ynx.’9 The action of the genioglossus muscle playsa crucial role in maintaining the patency of thepharyngeal airway because the velolingual sphinc-ter (anterior wall of the pharynx) is a dynamic flapvalve and it may easily obstruct the pharynx when
negative inspiratory pressure overcomes the genio-glossus force.7
Our clinical observations suggest a spectrum ofneuromuscular activity of the geniog!ossus in in-fants with micrognathia because in some infants,there was no correlation between the severity of
symptoms and the degree of micrognathia. Infants
at the lower end of the spectrum may have g!osso-ptosis even without hypoplasia of the mandible (Fig
1).
In 1923, New2#{176}first described as “congenital flac-cid tongue” a condition causing, mainly during
sleep, episodes of pharyngea! obstruction in an un-
derweight infant with a simple rhinitis. The sameclinical picture has been subsequently reported in
a few patients with glossoptosis without microgna-
thia. Possible causes of g!ossoptosis include a pri-mary disorder of CNS control of muscular tone2’ or
an anatomic abnormality of the tongue.22 Investi-
gations using electromyography have shown a di-minished geniog!ossus activity in a family clusterof the adult sleep-apnea syndrome.8 In this family,an adult and an infant died suddenly, as did our
patient with g!ossoptosis without micrognathia.
Even in patients with abnormal genioglossus func-
tion, however, the final pathway leading to g!osso-
ptosis apnea may be the increase in airflow resist-
ance caused by the functional pharyngeal airwaynarrowing due to posterior displacement of the
tongue.23 Episodes of upper airway infection may
exacerbate an underlying neuromuscular abnor-mality.
Nasal Obstruction
Most investigators have reported3’24’2� that bi!at-
era! choanal obstruction is a neonatal surgicalemergency, whereas unilateral choanal obstruction
is a condition usually recognized later in childhood,
unless associated with temporary obstruction of the
norma! nostril. In the present series, infants with
either unilateral or bilateral choanal obstruction,as well as the four infants with inflammatory block-
age of the nose, showed no differences in symptom-atology or in referral age. In addition, we found nodifferences in clinical features between infants with
nasal obstruction and those with Pierre Robin syn-
drome.The common pathogenic mechanism of respira-
tory and feeding problems in infants with different
types of nasal obstruction appeared to be a back-
ward and upward displacement of the tongue caus-ing episodes of complete or incomplete obstruction
of the pharynx. Our previous studies of intraesoph-ageal pressure in infants with choanal atresia
pointed to negative intrathoracic pressure as themain cause of glossoptotic airway obstruction.2
Clinical observations of a larger series of patientsindicate that at times there was no correlationbetween the degree of nasal obstruction and the
severity of symptoms. We believe that a neuromus-cu!ar abnormality of the genioglossus may play animportant role in the pathogenic mechanism ofg!ossoptosis-apnea in patients with nasal obstruc-
tion.
The abnormal response to a minor degree of nasa!obstruction in the four infants with rhinitis in ourpresent series suggests a diminished genioglossusairway maintaining action. The same problems
found in the four infants we studied have sometimesbeen reported in association with a simple rhinitis,
and this has been explained by the known inabilityof some infants to breathe through the mouth.’2’26
In the infants we studied, the apnea associated withinflammatory nasal obstruction appeared to be re-lated to glossoptosis.
Respiratory Status
It is generally accepted that patients with upper
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
842 GLOSSOPTOSIS-APNEA SYNDROME
airway obstruction have greater difficulty in breath-ing-in than in breathing-out; the consequent alveo-
lar hypoventilation leads to hypoxemia and hyper-capnia. Surprisingly, several infants in the presentseries with micrognathia or with nasal obstruction
had clinical and/or radiologic evidence of overdis-
tention of the lungs, which was occasionally asso-
ciated with wheezing, mainly of expiratory nature,and with a degree of hypoxemia which was greaterthan the degree of hypercapnia. Upper airway ob-struction, therefore, may be associated with pul-
monary disease similar to that found in lower air-way obstruction.
In many cases (Fig 3), the points where arterial
P02 and Pco2 meet are situated to the left of theline representing the respiratory quotient of .8 andare often below the value of 45 mm Hg for arterialP02. Primary hypoventilation cannot explain thesefindings, which are due to failure of gas exchangewithin the lung. A number of factors can contribute
to an alveolar-arterial oxygen difference, includingventilation-perfusion inequalities and/or right-to-
left shunting. However, the most likely cause forsuch a large alveolar-arterial oxygen difference athigh 02 concentration as we observed is an intra-
pulmonary right-to-left shunt. During the first fewmonths of life, another possible cause of alveolar-arterial oxygen difference may be a persistent fetal
circulation.
Relationship to Sleep-Apnea Syndromes
Some patients with anatomic causes of upperairway obstruction (micrognathia, nasal obstruc-tion, enlarged adenoids and tonsils, laryngeal ste-nosis) as well as some patients without anatomic
obstruction, may have similar cardiorespiratoryproblems caused by frequent episodes of central
and/or obstructive apnea during sleep.5’27’28 Thepathogenic mechanism of these obstructive sleepapneas may be an oropharyngeal collapse.4’#{176}
About 50 years ago, a similar pathogenic mecha-nism of pharyngeal obstruction was called glosso-
ptosis by Robin, who also first noticed the correla-tion between “acquired glossoptosis” and the clini-cal picture caused by enlarged adenoids, the abnor-mality most frequently found in children with ob-structive sleep-apnea.’3’2#{176} However, in 26 of 36 in-
fants of the present series (72%), the glossoptoticpharyngeal obstruction occurred while the infantswere awake, therefore, without the decreased geni-
oglossus activity caused by rapid eye movement
(REM) sleep. This easier occurrence of glossopto-sis-apnea during wakefulness may be explained bythe fact that in early infancy the nasopharyngea!airway is particularly prone to closure by backward
displacement of the tongue as the larynx and other
cervical structures occupy a higher position in in-fancy.3#{176}
Still the infant is at a disadvantage because he
or she must breathe through the nose. The reasonfor this inability to breathe through the mouth hasbeen found to be an incapacity of some infants tobreak the adherence of the tongue to the palate;
this norma!!y occurs in infancy during sleep.3’ Con-
sequent!y, during rapid eye movement sleep, many
normal infants have an inadequate response to
nasal occlusion, and this may lead to apnea, poor
arousal, and inability to induce breathing throughthe mouth by crying.32 Variable levels of impaired
arousal may be responsible for either sudden crib
death or acute hypoxemic brain damage, complica-tions found in about one fourth of the infants inthe present series.
If one accepts these explanations, it follows that
the glossoptosis-apnea syndrome should include all
sleep-apnea syndromes. Apnea during wakefulness,sudden death, and hypoxic brain damage may be
features re!ated to the infant’s own anatomy and
physiology.
Relationship to Sudden Infant Death Syndrome(SIDS)
Both retrospective33’34 and prospective35’36 studies
of a large series of victims of SIDS indicate thatwhen compared with a control group of normal
infants, victims of SIDS have a significantly higherincidence of many abnormalities. Features foundresemble those of the infants of the present series,
substantiating the hypothesis that the apnea dueto aspiration of the tongue may be a possible mech-
anism of SIDS.37This concept differs from that of passive pharyn-
geal obstruction favored by pressure of the baby’sface against the mattress in the prone position.38This theory does not explain the relationship be-
tween SIDS and upper respiratory tract infec-
tions.39 Conversely, the concept of g!ossoptosis-apnea due to aspiration of the tongue is in agree-ment with the finding that about 50% of victims of
SIDS have only inflammatory changes of the res-piratory tract. The airway obstruction caused by
inflammatory edema produces an increase in the
negative inspiratory pressure, and this may be suf-
ficient to displace the tongue backward in subjectssuch as the infants of the present series with geni-
oglossus dysfunction. The consequent functional
pharyngeal narrowing promotes episodes of oropha-
ryngeal collapse during sleep. In infancy, this glos-soptosis-apnea may be life-threatening.
In infants with genioglossus dysfunction, the useof an oropharyngeal cannula or a glossopexy shou!dbe considered to prevent sudden death and hypoxicbrain damage.
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
ARTICLES 843
REFERENCES
1. Robin P: Glossoptosis due to atresia and hypotrophy of the
mandible. Am J Dis Child 1934;48:541-5472. Cozzi F: Glossoptosis as a cause of apneic spells in infants
with choanal atresia. Lancet 1977;2:830-8313. Winther LK: Congenital choanal atreisa: Anatomic, physi-
ological, and therapeutic aspects, especially the endonasalapproach under endoscopic vision. Arch Otokiryngol1978;104:72-78
4. Bohlman ME, Haponik EF, Smith PL, et al: CT demonstra-tion of pharyngeal narrowing in adult obstructive sleepapnea. AJR 1983;140:543-548
5. Gastaut H, Tassinari CA, Duron B: Etude polygraphiquedes manifestations episodiques (hypniques et respiratoires)diurnes et nocturnes du syndrome de Pickwick. Rev Neurol1965;112:568-578
6. Felman AH, Loughlin GM, Leftridge CA, et al: Upper airway
obstruction during sleep in children. AJR 1979;133:213-2167. Remmers JE, de Groot WJ, Sawerland EK, et al: Pathogen-
esis of upper airway occlusion during sleep. J App! Physiol1978;44:931-938
8. Strohl KP, Saunders NA, Feldman NT, et al: Obstructivesleep apnea in family members. N EnglJ Med 1978;299:969-973
9. Suratt PM, Dee P, Atkinson RL, et al: Fluoroscopic and
computed tomographic features of the pharyngeal airway inobstructive sleep apnea. Am Rev Respir Dis 1983;127:487-
49210. Walsh RE, Michealson ED, Harkeload LE, et al: Upper
airway obstruction in obese patients with sleep disturbanceand somnolence. Ann Intern Med 1972;76:185-192
11. Pruzanksy 5, Richmond JB: Growth of mandible in infants
with micrognathia. Am J Dis Child 154;88:29-42
12. Rowe LD, Hansen TN, Nielsen D, et al: Continuousmeasurements of skin surface oxygen and carbon dioxidetensions in obstructive sleep apnea. Laryngoscope 1980;
90:1797-180313. Brouillette RT, Fernbach 5K, Hunt CE: Obstructive sleep
apnea in infants and children. J Pediatr 1982;100:31-4014. Dennison WM: The Pierre Robin syndrome. Pediatrics
1965;36:336-34115. Nicolaj P: L’ipoplasia della mandibola con glossoptosi (sin-
drome di Robin) quale causa di cornage nel lattante. ClinPediatr 1955;37:378-392
16. Jeresaty RM, Huszar RJ, Basu 5: Pierre Robin syndrome.Am J Dis Child 169;117:710-716
17. Cogswell JJ, Easton DM: Cor pulmonale in the Pierre Robinsyndrome. Arch Dis Child 1974;49:905-908
18. Mallory SB, Paradise JL: Glossoptosis revisited: On thedevelopment and resolution of airway obstruction in thePierre Robin syndrome. Pediatrics 1979;64:946-948
19. Brouillette RT, Thach BT: A neuromuscular mechanism
maintaining airway patency. J AppI Physiol 1979;46:772-
779
20. New GB: Congenital obstruction of the larynx and pharynx.JAMA 1923;81:363-366
21. Nicolaj P: Considerazioni patogenetiche sulla sintomatolo-gia presentata dai lattanti affetti da micrognazia e glossop-tosi. Clin Pediatr 1955;38:669-681
22. Bigotti A, D’Agostino G: Un raro caso di glossoptosi senzaipoplasia mandibolare: sindrome di Pierre Robin incom-pleta. Minerva Med 1959;50:3255-3257
23. Cozzi F: Familial obstructive sleep apnea, letter. N Engl J
Med 1979;300:506-507
24. Mc Govern FH, Fitz-Hugh GS: Surgical management ofcongenital choanal atresia. Arch Otokiryngol 1961;73:627-634
25. Weseman CM: Management of choanal atresia in the new-born. Laryngoscope 1973;83:1160-1166
26. Sjovall K: The use of an oral airway in the treatment ofrespiratory distress of infants. Acta Paediatr 1963;52:153-
158
27. Guilleminault C, Tilkian A, Dement WC: The sleep apneasyndromes. Annu Rev Med 1976;27:465-484
28. Lugaresi E, Coccagna G, Berti Ceroni G, et al: La “maledi-zione di Ondine” il disturbo del respiro e del sonnonell’ipoventilazione alveolare primaria. Sist Nerv
1968;20:27-3729. Guilleminault C, Eldrige FL, Simmons FB, et al: Sleep apnea
in eight children. Pediatrics 1976;58:23-3030. Moss ML: The veloepiglottic sphincter and obligate nose
breathing in the neonate. J Pediatr 165;67:330-331
31. Ardran GM, Kemp FA: The nasal and cervical airway in
sleep in the neonatal period. AJR 1970;108:537-54232. Swift PGF, Emery JL: Clinical observation on response to
nasal occlusion in infancy. Arch Dis Child 1973;48:947-95133. Carpenter RG, Gardener A, Pursall E, et al: Identification
ofsome infants at immediate risk ofdying unexpectedly andjustifying intensive study. Lancet 1979;2:343-346
34. Naeye RL, Messner J, Specht T, et al: Sudden infant death
syndrome temperament before death. JPediatr 1976;88:51 1-
51535. Working party for early childhood deaths in Newcastle:
Newcastle survey of deaths in early childhood 1974176 withspecial reference to sudden unexpected deaths. Arch DisChild 1977;52:828-835
36. Naeye RL, Ladis B, Drage JS: Sudden infant death syn-drome: A prospective study. Am J Dis Child 1976;130:1207-1210
37. Cozzi F, Albani R, Cardi E: A common pathophysiology forsudden cot death and sleep apnea: The “vacuum-glossoptosis
syndrome.” Med Hypotheses 1979;5:329-33838. Tonkin 5: Sudden infant death syndrome: Hypothesis of
causation. Pediatrics 1975;55:650-66139. Beckwith JB: The sudden infant death syndrome: A new
theory. Pediatrics 1975;55:583-584
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from
1985;75;836PediatricsF. Cozzi and A. Pierro
Glossoptosis-Apnea Syndrome in Infancy
ServicesUpdated Information &
http://pediatrics.aappublications.org/content/75/5/836including high resolution figures, can be found at:
Citations http://pediatrics.aappublications.org/content/75/5/836#related-urls
This article has been cited by 5 HighWire-hosted articles:
Permissions & Licensing
http://pediatrics.aappublications.org/site/misc/Permissions.xhtmlor in its entirety can be found online at: Information about reproducing this article in parts (figures, tables)
Reprints http://pediatrics.aappublications.org/site/misc/reprints.xhtml
Information about ordering reprints can be found online:
Online ISSN: 1098-4275.Copyright © 1985 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007.has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it
by guest on February 17, 2013pediatrics.aappublications.orgDownloaded from